TY - JOUR
T1 - Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4)
AU - Mutlu, Mehmet
AU - Kalay, Ersan
AU - Dilber, Beril
AU - Aslan, Yakup
AU - Dilber, Embiya
AU - Almaani, Nour
AU - McGrath, John A.
N1 - Publisher Copyright:
© 2015, Turkish Journal of Pediatrics. All rights reserved.
PY - 2015/7/1
Y1 - 2015/7/1
N2 - Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal– epidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is a rare autosomal recessive form and characterized by severe mucocutaneous blisters and gastric outlet obstruction. Most of the mutations in JEP-PA are associated with the α6β4 integrin genes (ITGA6, ITGB4,). Herein, we present a female newborn with lethal JEB-PA caused by a novel beta4 integrin mutation.
AB - Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal– epidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is a rare autosomal recessive form and characterized by severe mucocutaneous blisters and gastric outlet obstruction. Most of the mutations in JEP-PA are associated with the α6β4 integrin genes (ITGA6, ITGB4,). Herein, we present a female newborn with lethal JEB-PA caused by a novel beta4 integrin mutation.
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M3 - Article
C2 - 27186702
AN - SCOPUS:84969190795
SN - 0041-4301
VL - 57
SP - 385
EP - 387
JO - Turkish Journal of Pediatrics
JF - Turkish Journal of Pediatrics
IS - 4
ER -